Autosomal recessive axonal neuropathy with neuromyotonia
Synonyms: ARAN-NM | ARCMT2-NM | Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
A rare peripheral neuropathy characterized by slowly progressive axonal motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia) impaired muscle relaxation (pseudomyotonia) and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment muscle stiffness fasciculations and cramps in hands and legs worsened by cold decreased to absent tendon reflexes intrinsic hand muscle atrophy and variably mild distal sensory impairment.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Autosomal recessive axonal neuropathy with neuromyotonia?
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Hereditary Neuropathy Foundation
Hereditary Neuropathy Foundation (HNF) is a non-profit 501(c)3 organization which mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures.
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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